Canonical Allele Identifier: CA371655790

Gene: NBN

Linked Data

• ClinVar Variation Id: 819296
• ClinVar RCV Id: RCV001011733 ; RCV001043710
• dbSNP Id: rs1586054565
• gnomAD v4: 8-89953620-A-G
• MyVariant Identifiers: chr8:g.90965848A>G (hg19) ; chr8:g.89953620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89953620A>G , CM000670.2:g.89953620A>G	GRCh38
NC_000008.10:g.90965848A>G , CM000670.1:g.90965848A>G	GRCh37
NC_000008.9:g.91035024A>G	NCBI36
NG_008860.1:g.36052T>C , LRG_158:g.36052T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2771T>C
ENST00000517337.2:c.1223T>C	ENSP00000429971.2:p.Leu408Ser
ENST00000523444.2:c.1223T>C	ENSP00000428252.2:p.Leu408Ser
ENST00000697292.1:c.1469T>C	ENSP00000513229.1:p.Leu490Ser
ENST00000697293.1:c.1469T>C	ENSP00000513230.1:p.Leu490Ser
ENST00000697294.1:c.*1080T>C	ENSP00000513231.1:n.*1080T>C
ENST00000697295.1:c.*778T>C	ENSP00000513232.1:n.*778T>C
ENST00000697296.1:c.*1137T>C	ENSP00000513233.1:n.*1137T>C
ENST00000697297.1:n.3254T>C
ENST00000697298.1:c.1223T>C	ENSP00000513234.1:p.Leu408Ser
ENST00000697299.1:c.1223T>C	ENSP00000513235.1:p.Leu408Ser
ENST00000697300.1:c.*1073T>C	ENSP00000513236.1:n.*1073T>C
ENST00000697301.1:c.*990T>C	ENSP00000513237.1:n.*990T>C
ENST00000697302.1:c.*990T>C	ENSP00000513238.1:n.*990T>C
ENST00000697303.1:c.*1073T>C	ENSP00000513239.1:n.*1073T>C
ENST00000697304.1:c.1157T>C	ENSP00000513240.1:p.Leu386Ser
ENST00000697306.1:c.*469T>C	ENSP00000513241.1:n.*469T>C
ENST00000697307.1:c.1469T>C	ENSP00000513242.1:p.Leu490Ser
ENST00000697308.1:c.1469T>C	ENSP00000513243.1:p.Leu490Ser
ENST00000697309.1:c.1469T>C	ENSP00000513244.1:p.Leu490Ser
ENST00000697310.1:c.1469T>C	ENSP00000513245.1:p.Leu490Ser
ENST00000697311.1:c.1469T>C	ENSP00000513246.1:p.Leu490Ser
ENST00000697312.1:c.*867T>C	ENSP00000513247.1:n.*867T>C
ENST00000697313.1:n.2687+16744T>C
ENST00000697314.1:n.3260T>C
ENST00000697315.1:c.1469T>C	ENSP00000513248.1:p.Leu490Ser
ENST00000697316.1:n.1590T>C
ENST00000697317.1:n.1579T>C
ENST00000697318.1:n.1581T>C
ENST00000265433.8:c.1469T>C MANE Select	ENSP00000265433.4:p.Leu490Ser
ENST00000265433.7:c.1469T>C	ENSP00000265433.3:p.Leu490Ser
ENST00000396252.6:c.*1342T>C	ENSP00000379551.2:n.*1342T>C
ENST00000409330.5:c.1223T>C	ENSP00000386924.1:p.Leu408Ser
NM_001024688.2:c.1223T>C	NP_001019859.1:p.Leu408Ser
NM_002485.4:c.1469T>C , LRG_158t1:c.1469T>C	NP_002476.2:p.Leu490Ser
XM_011517044.1:c.1445T>C	XP_011515346.1:p.Leu482Ser
XM_011517045.1:c.1223T>C	XP_011515347.1:p.Leu408Ser
XR_928335.1:n.1608T>C
XM_017013460.1:c.590T>C	XP_016868949.1:p.Leu197Ser
XM_017013462.2:c.590T>C	XP_016868951.1:p.Leu197Ser
XM_024447163.1:c.1223T>C	XP_024302931.1:p.Leu408Ser
XM_024447164.1:c.1223T>C	XP_024302932.1:p.Leu408Ser
XM_024447165.1:c.590T>C	XP_024302933.1:p.Leu197Ser
NM_002485.5:c.1469T>C MANE Select	NP_002476.2:p.Leu490Ser
NM_001024688.3:c.1223T>C	NP_001019859.1:p.Leu408Ser